title: Clinical and radiological outcome of patients suffering from chronic pancreatitis associated with gene mutations.
abstract: OBJECTIVE
  Cystic fibrosis transmembrane conductance regulator (CFTR), cationic trypsinogen gene (PRSS1), and serine protease inhibitor kazal type 1 (SPINK1) gene mutations have been associated with chronic pancreatitis (CP). The aim of this study was to compare clinical and radiological findings in sporadic CP with (CPgm) and without (CPwt) gene mutations.
  
  
  METHODS
  Data from patients observed between 2001 and 2006 were collected. All patients were tested for 25 CFTR gene mutations, for R122H and N29I on the PRSS1 gene, and for N34S mutation on the SPINK1 gene.
  
  
  RESULTS
  We found 34 (17.2%) of 198 patients with CPgm, 23 (11.6%) of them on the CFTR gene, 11 (5.6%) on the SPINK1, and none on the PRSS1 gene. The age at clinical onset was younger in CPgm (36.2 +/- 17.2 years) than in CPwt (44 +/- 12.6 years; P = 0.005). There were more heavy drinkers among CPwt (33%) than among CPgm (9%; P = 0.003), and the same applied to smokers (69% vs 33%, respectively; P < 0.0001). In CPgm group, the onset of pancreatic calcifications was observed more frequently in drinkers and/or smokers. Exocrine and endocrine insufficiency occurred less frequently and later in CPgm than in CPwt patients.
  
  
  CONCLUSIONS
  Clinical and radiological outcome differ in CPgm compared with CPwt. Alcohol, even in small quantities, and cigarette smoking influence the onset of pancreatic calcifications.
authors.affiliation: Department of Biochemical and Surgical Sciences, University of Verona, Verona, Italy. luca.frulloni@univr.it
authors.forename: Luca
authors.initials: L
authors.lastname: Frulloni
authors.forename: Chiara
authors.initials: C
authors.lastname: Scattolini
authors.forename: Rossella
authors.initials: R
authors.lastname: Graziani
authors.forename: Giulia Martina
authors.initials: GM
authors.lastname: Cavestro
authors.forename: Cecilia
authors.initials: C
authors.lastname: Pravadelli
authors.forename: Antonio
authors.initials: A
authors.lastname: Amodio
authors.forename: Riccardo
authors.initials: R
authors.lastname: Manfredi
authors.forename: Aldo
authors.initials: A
authors.lastname: Scarpa
authors.forename: Italo
authors.initials: I
authors.lastname: Vantini
mesh_terms: D000328:Adult; D000367:Age Factors; D000428:Alcohol Drinking / Q000009:adverse effects; D002352:Carrier Proteins / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D050500:Pancreatitis, Chronic / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D011446:Prospective Studies; D011859:Radiography; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects; D013997:Time Factors; D016896:Treatment Outcome; D014357:Trypsin; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen / Q000235:genetics*; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin